WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108568795_108568804delinsTGGAACCTGGT | CA2739290558 | COL4A5 | c.358_367delinsTGGAACCTGGT (p.Gly120TrpfsTer?) n.542_551delinsTGGAACCTGGT c.34_43delinsTGGAACCTGGT (p.Gly12TrpfsTer?) c.373_382delinsTGGAACCTGGT (p.Gly125TrpfsTer?) | |
| X | g.108568803_108568804delinsCG | CA2450679276 | COL4A5 | c.366_367delinsCG (p.Pro122=) n.550_551delinsCG c.42_43delinsCG (p.Pro14=) c.381_382delinsCG (p.Pro127=) | |
| X | g.108568804G>A | CA413918484 | COL4A5 | c.367G>A (p.Gly123Arg) n.551G>A c.43G>A (p.Gly15Arg) c.382G>A (p.Gly128Arg) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108568804G>C | CA413918485 | COL4A5 | c.367G>C (p.Gly123Arg) n.551G>C c.43G>C (p.Gly15Arg) c.382G>C (p.Gly128Arg) | ClinVar dbSNP |
| X | g.108568804G= | CA2450679278 | COL4A5 | c.367G= (p.Gly123=) n.551G= c.43G= (p.Gly15=) c.382G= (p.Gly128=) | |
| X | g.108568804G>T | CA413918487 | COL4A5 | c.367G>T (p.Gly123Ter) n.551G>T c.43G>T (p.Gly15Ter) c.382G>T (p.Gly128Ter) | ClinVar |
| X | g.108568805del | CA258229 | COL4A5 | c.368del (p.Gly123AspfsTer?) n.552del c.44del (p.Gly15AspfsTer?) c.383del (p.Gly128AspfsTer?) | dbSNP |
| X | g.108568805G>A | CA413918504 | COL4A5 | c.368G>A (p.Gly123Glu) n.552G>A c.44G>A (p.Gly15Glu) c.383G>A (p.Gly128Glu) | dbSNP |
| X | g.108568805G>C | CA413918511 | COL4A5 | c.368G>C (p.Gly123Ala) n.552G>C c.44G>C (p.Gly15Ala) c.383G>C (p.Gly128Ala) | |
| X | g.108568805G= | CA2450679279 | COL4A5 | c.368G= (p.Gly123=) n.552G= c.44G= (p.Gly15=) c.383G= (p.Gly128=) | |
| X | g.108568805G>T | CA413918517 | COL4A5 | c.368G>T (p.Gly123Val) n.552G>T c.44G>T (p.Gly15Val) c.383G>T (p.Gly128Val) | |
| X | g.108568806A>C | CA517991517 | COL4A5 | c.369A>C (p.Gly123=) n.553A>C c.45A>C (p.Gly15=) c.384A>C (p.Gly128=) | |
| X | g.108568806A>G | CA517991518 | COL4A5 | c.369A>G (p.Gly123=) n.553A>G c.45A>G (p.Gly15=) c.384A>G (p.Gly128=) | |
| X | g.108568806A>T | CA517991519 | COL4A5 | c.369A>T (p.Gly123=) n.553A>T c.45A>T (p.Gly15=) c.384A>T (p.Gly128=) | gnomAD v4 |
| X | g.108568807T>A | CA413918534 | COL4A5 | c.370T>A (p.Cys124Ser) n.554T>A c.46T>A (p.Cys16Ser) c.385T>A (p.Cys129Ser) | |
| X | g.108568807T>C | CA413918535 | COL4A5 | c.370T>C (p.Cys124Arg) n.554T>C c.46T>C (p.Cys16Arg) c.385T>C (p.Cys129Arg) | |
| X | g.108568807T>G | CA413918536 | COL4A5 | c.370T>G (p.Cys124Gly) n.554T>G c.46T>G (p.Cys16Gly) c.385T>G (p.Cys129Gly) | |
| X | g.108568808G>A | CA413918537 | COL4A5 | c.371G>A (p.Cys124Tyr) n.555G>A c.47G>A (p.Cys16Tyr) c.386G>A (p.Cys129Tyr) | |
| X | g.108568808G>C | CA413918538 | COL4A5 | c.371G>C (p.Cys124Ser) n.555G>C c.47G>C (p.Cys16Ser) c.386G>C (p.Cys129Ser) | |
| X | g.108568808G>T | CA413918539 | COL4A5 | c.371G>T (p.Cys124Phe) n.555G>T c.47G>T (p.Cys16Phe) c.386G>T (p.Cys129Phe) | |
| X | g.108568809C>A | CA413918540 | COL4A5 | c.372C>A (p.Cys124Ter) n.556C>A c.48C>A (p.Cys16Ter) c.387C>A (p.Cys129Ter) | |
| X | g.108568809C>G | CA413918541 | COL4A5 | c.372C>G (p.Cys124Trp) n.556C>G c.48C>G (p.Cys16Trp) c.387C>G (p.Cys129Trp) | |
| X | g.108568809C>T | CA517991520 | COL4A5 | c.372C>T (p.Cys124=) n.556C>T c.48C>T (p.Cys16=) c.387C>T (p.Cys129=) | |
| X | g.108568810A>C | CA413918545 | COL4A5 | c.373A>C (p.Asn125His) n.557A>C c.49A>C (p.Asn17His) c.388A>C (p.Asn130His) | gnomAD v4 |
| X | g.108568810A>G | CA413918549 | COL4A5 | c.373A>G (p.Asn125Asp) n.557A>G c.49A>G (p.Asn17Asp) c.388A>G (p.Asn130Asp) | |
| X | g.108568810A>T | CA413918557 | COL4A5 | c.373A>T (p.Asn125Tyr) n.557A>T c.49A>T (p.Asn17Tyr) c.388A>T (p.Asn130Tyr) | |
| X | g.108568811A= | CA2450679280 | COL4A5 | c.374A= (p.Asn125=) n.558A= c.50A= (p.Asn17=) c.389A= (p.Asn130=) | |
| X | g.108568811A>C | CA413918568 | COL4A5 | c.374A>C (p.Asn125Thr) n.558A>C c.50A>C (p.Asn17Thr) c.389A>C (p.Asn130Thr) | |
| X | g.108568811A>G | CA413918569 | COL4A5 | c.374A>G (p.Asn125Ser) n.558A>G c.50A>G (p.Asn17Ser) c.389A>G (p.Asn130Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108568811A>T | CA413918572 | COL4A5 | c.374A>T (p.Asn125Ile) n.558A>T c.50A>T (p.Asn17Ile) c.389A>T (p.Asn130Ile) | |
| X | g.108568812T>A | CA413918577 | COL4A5 | c.375T>A (p.Asn125Lys) n.559T>A c.51T>A (p.Asn17Lys) c.390T>A (p.Asn130Lys) | |
| X | g.108568812T>C | CA517991521 | COL4A5 | c.375T>C (p.Asn125=) n.559T>C c.51T>C (p.Asn17=) c.390T>C (p.Asn130=) | |
| X | g.108568812T>G | CA413918576 | COL4A5 | c.375T>G (p.Asn125Lys) n.559T>G c.51T>G (p.Asn17Lys) c.390T>G (p.Asn130Lys) | |
| X | g.108568813G>A | CA413918578 | COL4A5 | c.376G>A (p.Gly126Arg) n.560G>A c.52G>A (p.Gly18Arg) c.391G>A (p.Gly131Arg) | |
| X | g.108568813G>C | CA413918579 | COL4A5 | c.376G>C (p.Gly126Arg) n.560G>C c.52G>C (p.Gly18Arg) c.391G>C (p.Gly131Arg) | |
| X | g.108568813G>T | CA413918580 | COL4A5 | c.376G>T (p.Gly126Ter) n.560G>T c.52G>T (p.Gly18Ter) c.391G>T (p.Gly131Ter) | |
| X | g.108568814G>A | CA413918586 | COL4A5 | c.377G>A (p.Gly126Glu) n.561G>A c.53G>A (p.Gly18Glu) c.392G>A (p.Gly131Glu) | dbSNP gnomAD v2 |
| X | g.108568814G>C | CA413918589 | COL4A5 | c.377G>C (p.Gly126Ala) n.561G>C c.53G>C (p.Gly18Ala) c.392G>C (p.Gly131Ala) | |
| X | g.108568814G= | CA2450679281 | COL4A5 | c.377G= (p.Gly126=) n.561G= c.53G= (p.Gly18=) c.392G= (p.Gly131=) | |
| X | g.108568814G>T | CA413918593 | COL4A5 | c.377G>T (p.Gly126Val) n.561G>T c.53G>T (p.Gly18Val) c.392G>T (p.Gly131Val) | |
| X | g.108568815A>C | CA517991522 | COL4A5 | c.378A>C (p.Gly126=) n.562A>C c.54A>C (p.Gly18=) c.393A>C (p.Gly131=) | |
| X | g.108568815A>G | CA517991524 | COL4A5 | c.378A>G (p.Gly126=) n.562A>G c.54A>G (p.Gly18=) c.393A>G (p.Gly131=) | |
| X | g.108568815A>T | CA517991523 | COL4A5 | c.378A>T (p.Gly126=) n.562A>T c.54A>T (p.Gly18=) c.393A>T (p.Gly131=) | |
| X | g.108568816A>C | CA413918605 | COL4A5 | c.379A>C (p.Thr127Pro) n.563A>C c.55A>C (p.Thr19Pro) c.394A>C (p.Thr132Pro) | |
| X | g.108568816A>G | CA413918609 | COL4A5 | c.379A>G (p.Thr127Ala) n.563A>G c.55A>G (p.Thr19Ala) c.394A>G (p.Thr132Ala) | ClinVar dbSNP |
| X | g.108568816A>T | CA413918607 | COL4A5 | c.379A>T (p.Thr127Ser) n.563A>T c.55A>T (p.Thr19Ser) c.394A>T (p.Thr132Ser) | |
| X | g.108568817C>A | CA413918611 | COL4A5 | c.380C>A (p.Thr127Asn) n.564C>A c.56C>A (p.Thr19Asn) c.395C>A (p.Thr132Asn) | |
| X | g.108568817C>G | CA413918613 | COL4A5 | c.380C>G (p.Thr127Ser) n.564C>G c.56C>G (p.Thr19Ser) c.395C>G (p.Thr132Ser) | |
| X | g.108568817C>T | CA413918636 | COL4A5 | c.380C>T (p.Thr127Ile) n.564C>T c.56C>T (p.Thr19Ile) c.395C>T (p.Thr132Ile) | |
| X | g.108568818C>A | CA517991525 | COL4A5 | c.381C>A (p.Thr127=) n.565C>A c.57C>A (p.Thr19=) c.396C>A (p.Thr132=) |